AHSG
alpha 2-HS glycoprotein
Summary
The protein encoded by this gene is a negatively-charged serum glycoprotein that is synthesized by hepatocytes. The encoded protein consists of two polypeptide chains, which are both cleaved from a proprotein encoded from a single mRNA. It is involved in several processes, including endocytosis, brain development, and the formation of bone tissue. Defects in this gene are a cause of susceptibility to leanness. [provided by RefSeq, Aug 2017]
Known Variants59 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs35094235 | 3:186,328,951 | T/G | upstream gene variant | — |
| rs191400058 | 3:186,329,041 | A/C | upstream gene variant | — |
| rs2248690 | 3:186,330,088 | T/C | — | — |
| rs2077119 | 3:186,330,462 | T/G | regulatory region variant | — |
| rs370627604 | 3:186,330,934 | A/T | — | conflicting classifications of pathogenicity |
| rs201151319 | 3:186,330,956 | G/T | — | uncertain significance |
| rs4831 | 3:186,330,969 | C/G | synonymous variant | benign |
| rs749972989 | 3:186,331,011 | T/C | — | likely benign |
| rs377000409 | 3:186,331,019 | C/T | — | likely benign |
| rs769790254 | 3:186,331,027 | G/A | — | uncertain significance |
| rs1246111953 | 3:186,331,047 | A/C | — | uncertain significance |
| rs150486317 | 3:186,331,138 | C/T | — | benign |
| rs2518134 | 3:186,332,182 | C/T | intron variant | — |
| rs568248700 | 3:186,332,432 | G/A | — | — |
| rs2593813 | 3:186,332,571 | G/A | regulatory region variant | benign |
| rs2474619571 | 3:186,333,480 | T/C | — | uncertain significance |
| rs757121797 | 3:186,333,483 | G/A | — | uncertain significance |
| rs1020183582 | 3:186,333,532 | T/G | — | uncertain significance |
| rs544273449 | 3:186,333,552 | G/A | — | uncertain significance |
| rs750328046 | 3:186,333,564 | G/A | — | uncertain significance |
| rs181773787 | 3:186,334,969 | C/T | — | benign |
| rs7633550 | 3:186,334,990 | G/T | — | benign |
| rs373886640 | 3:186,335,034 | C/T | — | likely benign |
| rs78152999 | 3:186,335,076 | C/T | — | benign |
| rs370989005 | 3:186,335,102 | A/G | — | uncertain significance |
| rs140503508 | 3:186,335,107 | C/G | — | uncertain significance |
| rs553707017 | 3:186,335,109 | G/C | — | uncertain significance |
| rs901309276 | 3:186,335,131 | C/A | — | uncertain significance |
| rs2070633 | 3:186,335,941 | T/C | intron variant | — |
| rs2070634 | 3:186,336,027 | G/T | — | association |
| rs2070635 | 3:186,336,176 | A/G | intron variant | association |
| rs779633971 | 3:186,336,344 | A/C | — | uncertain significance |
| rs74888869 | 3:186,336,436 | C/A | — | benign |
| rs1403967930 | 3:186,337,698 | T/C | — | uncertain significance |
| rs4917 | 3:186,337,713 | T/C | missense variant | benign |
| rs2518136 | 3:186,337,827 | T/G | — | — |
| rs4918 | 3:186,338,382 | G/C | missense variant | benign |
| rs35890379 | 3:186,338,397 | C/G | — | benign |
| rs144873304 | 3:186,338,419 | C/T | — | likely benign |
| rs1071592 | 3:186,338,425 | A/C | synonymous variant | benign |
| rs146649814 | 3:186,338,429 | G/A | — | uncertain significance |
| rs769701026 | 3:186,338,457 | C/T | — | uncertain significance |
| rs200127682 | 3:186,338,501 | G/T | — | likely benign |
| rs35799453 | 3:186,338,540 | C/T | — | benign |
| rs35457250 | 3:186,338,564 | T/C | — | benign |
| rs201849460 | 3:186,338,565 | G/A | missense variant | pathogenic |
| rs377627656 | 3:186,338,616 | C/T | — | likely benign |
| rs747609503 | 3:186,338,624 | C/T | — | uncertain significance |
| rs77385737 | 3:186,338,634 | G/A | — | benign |
| rs746165143 | 3:186,338,639 | G/A | — | uncertain significance |
| rs1183232012 | 3:186,338,646 | A/C | — | uncertain significance |
| rs2474630921 | 3:186,338,651 | A/C | — | uncertain significance |
| rs185963395 | 3:186,338,654 | G/T | — | uncertain significance |
| rs188731324 | 3:186,338,666 | G/C | — | uncertain significance |
| rs755561098 | 3:186,338,688 | G/A | — | uncertain significance |
| rs752255821 | 3:186,338,691 | C/T | — | uncertain significance |
| rs770177604 | 3:186,338,692 | G/C | — | likely benign |
| rs142793377 | 3:186,338,703 | G/C | — | uncertain significance |
| rs150951901 | 3:186,338,726 | C/A | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.